Berg, Jonathan

Dr

  • United Kingdom

  • 1123 Citations
  • 12 h-Index
20082019
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Fingerprint Dive into the research topics where Jonathan Berg is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 19 Similar Profiles
Breast Neoplasms Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Mutation Medicine & Life Sciences
Exome Medicine & Life Sciences
Desmosine Medicine & Life Sciences
Genes Medicine & Life Sciences
Life Style Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Projects 2012 2017

Research Output 2008 2019

Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant

Deciphering Developmental Disorders (DDD) Study, Michael Yates, T., Ng, O. H., Offiah, A. C., Willoughby, J., Berg, J. N. & Johnson, D. S., Jan 2019, In : American Journal of Medical Genetics, Part A. 179, 1, p. 43-49 7 p.

Research output: Contribution to journalArticle

Intellectual Disability
Amish
Eyebrows
Phenotype
Craniosynostoses

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

Nabais Sá, M. J., Jensik, P. J., McGee, S. R., Parker, M. J., Lahiri, N., McNeil, E. P., Kroes, H. Y., Hagerman, R. J., Harrison, R. E., Montgomery, T., Splitt, M., Palmer, E. E., Sachdev, R. K., Mefford, H. C., Scott, A. A., Martinez-Agosto, J. A., Lorenz, R., Orenstein, N., Berg, J. N., Amiel, J. & 18 others, Heron, D., Keren, B., Cobben, J-M., Menke, L. A., Marco, E. J., Graham, J. M., Pierson, T. M., Karimiani, E. G., Maroofian, R., Manzini, M. C., Cauley, E. S., Colombo, R., Odent, S., Dubourg, C., Phornphutkul, C., de Brouwer, A. P. M., de Vries, B. B. A. & Vulto-vanSilfhout, A. T., Sep 2019, In : Genetics in Medicine. 21, 9, p. 2059-2069 11 p.

Research output: Contribution to journalArticle

Language Development Disorders
Phenotype
Inheritance Patterns
Microcephaly
Pain Threshold
38 Downloads (Pure)

Exome Sequencing in Patients With Antiepileptic Drug Exposure And Complex Phenotypes

Deciphering Developmental Disorders (DDD) Study, Jackson, A., Ward, H., Bromley, R., Deshpande, C., Vasudevan, P. C., Scurr, I., Dean, J., Shannon, N., Berg, J., Holder, S., Baralle, D. & Clayton-Smith, J., 3 Sep 2019, In : Archives of Disease in Childhood. 6 p.

Research output: Contribution to journalArticle

Open Access
File
Exome
Anticonvulsants
Phenotype
Genetic Services
Developmental Genes

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Deciphering Developmental Disorders (DDD) Study, Cogné, B., Ehresmann, S., Beauregard-Lacroix, E., Rousseau, J., Besnard, T., Garcia, T., Petrovski, S., Avni, S., McWalter, K., Blackburn, P. R., Sanders, S. J., Uguen, K., Harris, J., Cohen, J. S., Blyth, M., Lehman, A., Berg, J., Li, M. H., Kini, U. & 33 others, Joss, S., von der Lippe, C., Gordon, C. T., Humberson, J. B., Robak, L., Scott, D. A., Sutton, V. R., Skraban, C. M., Johnston, J. J., Poduri, A., Nordenskjöld, M., Shashi, V., Gerkes, E. H., Bongers, E. M. H. F., Gilissen, C., Zarate, Y. A., Kvarnung, M., Lally, K. P., Kulch, P. A., Daniels, B., Hernandez-Garcia, A., Stong, N., McGaughran, J., Retterer, K., Tveten, K., Sullivan, J., Geisheker, M. R., Stray-Pedersen, A., Tarpinian, J. M., Klee, E. W., Sapp, J. C., Küry, S. & Campeau, P. M., 7 Mar 2019, In : American Journal of Human Genetics. 104, 3, p. 530-541 12 p.

Research output: Contribution to journalArticle

Gene Components
Histone Acetyltransferases
Autistic Disorder
Intellectual Disability
Genetic Association Studies

P6505Urinary desmosine, an elastin-specific degradation product is associated with maximum aortic root size and aortic z-scores in patients with bicuspid aortic valve

Iskandar, Z., Huang, J. T. J., Mordi, I., Miller, L. D., Chin, C., Goudie, D., Mcwilliam, C., Berg, J., Neagoie, A., Lang, C. C. & Choy, A. M., 21 Oct 2019, p. ehz746.1095.

Research output: Contribution to conferenceAbstract

Desmosine
Elastin
Aortic Valve
Marfan Syndrome
Bicuspid Aortic Valve

Activities 2012 2012

  • 1 Participation in workshop, seminar, course

11th International Workshop on Breast Imaging

Jonathan Berg (Participant)
9 Jul 2012

Activity: Participating in or organising an event typesParticipation in workshop, seminar, course

Thesis

Assessing risk of familial breast cancer: effectiveness of current UK guidelines

Author: Littlejohn, L., 2017

Supervisor: Berg, J. (Supervisor)

Student thesis: Master's ThesisMaster of Science

File

Breast Cancer Risk - Environmental and Genetic Effects on Cancer Development, Progression and Survival

Author: Mallin, A., 2015

Supervisor: Berg, J. (Supervisor)

Student thesis: Master's ThesisMaster of Science

File

Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome

Author: Ibrahim, A., 2016

Supervisor: Berg, J. (Supervisor)

Student thesis: Master's ThesisMaster of Science

Parents' experiences of genetic diagnosis in their child: an exploratory study

Author: Bryson, L., 2014

Supervisor: Berg, J. (Supervisor) & Anderson, A. (Supervisor)

Student thesis: Master's ThesisMaster of Science

File

Preclinical evaluation of a vaccine against IL-17 mediated inflammatory diseases including psoriasis

Author: West, J. D., 2017

Supervisor: Foerster, J. (Supervisor) & Berg, J. (Supervisor)

Student thesis: Master's ThesisMaster of Science

File